Metabolic epileptic disorders (WP5355)

Homo sapiens

Authors

Bhavana Kapalli , Aishwarya Iyer , Egon Willighagen , Javier Millán Acosta , Kristina Hanspers , and Eric Weitz

Activity

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Cited In

• Investigation of the relationship between COVID-19 and pancreatic cancer using bioinformatics and systems biology approaches (2024).

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

molybdenum cofactor deficiency pathway neuropsychiatric disease pathway metabolic disease pathway Glut1 deficiency syndrome pathway

Disease Ontology

epilepsy

References

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7. Resurgence of serine: an often neglected but indispensable amino Acid. Kalhan SC, Hanson RW. J Biol Chem. 2012 Jun 8;287(24):19786–91. PubMed Europe PMC Scholia
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9. Inborn errors of creatine metabolism and epilepsy. Leuzzi V, Mastrangelo M, Battini R, Cioni G. Epilepsia. 2013 Feb;54(2):217–27. PubMed Europe PMC Scholia
10. An update on serine deficiency disorders. van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, et al. J Inherit Metab Dis. 2013 Jul;36(4):613–9. PubMed Europe PMC Scholia
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12. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MMC, Young S. Genet Med. 2017 Feb;19(2):256–63. PubMed Europe PMC Scholia
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14. Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. Majd H, King MS, Smith AC, Kunji ERS. Biochim Biophys Acta Bioenerg. 2018 Jan;1859(1):1–7. PubMed Europe PMC Scholia
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16. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME, et al. Science. 2018 Nov 16;362(6416):eaat9528. PubMed Europe PMC Scholia
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19. Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature. Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM. Appl Clin Genet. 2020 Jan 30;13:49–55. PubMed Europe PMC Scholia
20. Biotinidase Deficiency. Saleem H, Simpson B. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023. PubMed Europe PMC Scholia
21. Molybdenum cofactor biology, evolution and deficiency. Mayr SJ, Mendel RR, Schwarz G. Biochim Biophys Acta Mol Cell Res. 2021 Jan;1868(1):118883. PubMed Europe PMC Scholia
22. Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, et al. Genes (Basel). 2021 Dec 29;13(1):84. PubMed Europe PMC Scholia
23. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures. Kaminiów K, Pająk M, Pająk R, Paprocka J. Brain Sci. 2021 Dec 31;12(1):65. PubMed Europe PMC Scholia